| Term Name: | Luo-Schoch-Yamamoto syndrome |
|---|---|
| Synonyms: | LUSYAM |
| Definition: | A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. |
| Ontology: | Human Disease [DOID:0070416] ( DOID:0070416 ) |